Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.

Journal Article (Journal Article;Review)

Comparative effectiveness research (CER) in genomic medicine (GM) measures the clinical utility of using genomic information to guide clinical care in comparison to appropriate alternatives. We summarized findings of high-quality systematic reviews that compared the analytic and clinical validity and clinical utility of GM tests. We focused on clinical utility findings to summarize CER-derived evidence about GM and identify evidence gaps and future research needs. We abstracted key elements of study design, GM interventions, results, and study quality ratings from 21 systematic reviews published in 2010 through 2015. More than half (N = 13) of the reviews were of cancer-related tests. All reviews identified potentially important clinical applications of the GM interventions, but most had significant methodological weaknesses that largely precluded any conclusions about clinical utility. Twelve reviews discussed the importance of patient-centered outcomes, although few described evidence about the impact of genomic medicine on these outcomes. In summary, we found a very limited body of evidence about the effect of using genomic tests on health outcomes and many evidence gaps for CER to address.Genet Med advance online publication 13 April 2017.

Full Text

Duke Authors

Cited Authors

  • Phillips, KA; Deverka, PA; Sox, HC; Khoury, MJ; Sandy, LG; Ginsburg, GS; Tunis, SR; Orlando, LA; Douglas, MP

Published Date

  • October 2017

Published In

Volume / Issue

  • 19 / 10

Start / End Page

  • 1081 - 1091

PubMed ID

  • 28406488

Pubmed Central ID

  • PMC5629101

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/gim.2017.21


  • eng

Conference Location

  • United States